Allele Registry

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.184627710_184627713del , CM000666.2:g.184627710_184627713del	GRCh38
NC_000004.11:g.185548864_185548867del , CM000666.1:g.185548864_185548867del	GRCh37
NC_000004.10:g.185785858_185785861del	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700100.1:c.1561_1564del	ENSP00000514797.1:n.1561_1564del
ENST00000700101.1:c.1561_1564del	ENSP00000514798.1:n.1561_1564del
ENST00000700102.1:n.3998_4001del
ENST00000308394.9:c.1561_1564del MANE Select	ENSP00000311032.4:n.1561_1564del
ENST00000308394.8:c.1561_1564del	ENSP00000311032.4:n.1561_1564del
ENST00000393585.6:c.1725_1728del	ENSP00000377210.2:n.1725_1728del
ENST00000523916.5:c.1561_1564del	ENSP00000428929.1:n.1561_1564del
ENST00000613118.4:c.1828_1831del	ENSP00000478339.1:n.1828_1831del
NM_004346.3:c.1561_1564del	NP_004337.2:n.1561_1564del
NM_032991.2:c.1561_1564del	NP_116786.1:n.1561_1564del
XM_011532301.1:c.1561_1564del	XP_011530603.1:n.1561_1564del
NM_001354777.1:c.1561_1564del	NP_001341706.1:n.1561_1564del
NM_001354779.1:c.1561_1564del	NP_001341708.1:n.1561_1564del
NM_001354780.1:c.1561_1564del	NP_001341709.1:n.1561_1564del
NM_001354781.1:c.1725_1728del	NP_001341710.1:n.1725_1728del
NM_001354782.1:c.1725_1728del	NP_001341711.1:n.1725_1728del
NM_001354783.1:c.1725_1728del	NP_001341712.1:n.1725_1728del
NM_001354784.1:c.1725_1728del	NP_001341713.1:n.1725_1728del
NM_004346.4:c.1561_1564del MANE Select	NP_004337.2:n.1561_1564del
NM_001354777.2:c.1561_1564del	NP_001341706.1:n.1561_1564del
NM_001354779.2:c.1561_1564del	NP_001341708.1:n.1561_1564del
NM_001354780.2:c.1561_1564del	NP_001341709.1:n.1561_1564del
NM_001354781.2:c.1725_1728del	NP_001341710.1:n.1725_1728del
NM_001354782.2:c.1725_1728del	NP_001341711.1:n.1725_1728del
NM_001354783.2:c.1725_1728del	NP_001341712.1:n.1725_1728del
NM_001354784.2:c.1725_1728del	NP_001341713.1:n.1725_1728del
NM_032991.3:c.1561_1564del	NP_116786.1:n.1561_1564del

HGVS	Amino-acid Change
ENST00000700100.1:c.1561_1564del	ENSP00000514797.1:n.1561_1564del
ENST00000700101.1:c.1561_1564del	ENSP00000514798.1:n.1561_1564del
ENST00000700102.1:n.3998_4001del
ENST00000308394.9:c.1561_1564del MANE Select	ENSP00000311032.4:n.1561_1564del
ENST00000308394.8:c.1561_1564del	ENSP00000311032.4:n.1561_1564del
ENST00000393585.6:c.1725_1728del	ENSP00000377210.2:n.1725_1728del
ENST00000523916.5:c.1561_1564del	ENSP00000428929.1:n.1561_1564del
ENST00000613118.4:c.1828_1831del	ENSP00000478339.1:n.1828_1831del
NM_004346.3:c.1561_1564del	NP_004337.2:n.1561_1564del
NM_032991.2:c.1561_1564del	NP_116786.1:n.1561_1564del
XM_011532301.1:c.1561_1564del	XP_011530603.1:n.1561_1564del
NM_001354777.1:c.1561_1564del	NP_001341706.1:n.1561_1564del
NM_001354779.1:c.1561_1564del	NP_001341708.1:n.1561_1564del
NM_001354780.1:c.1561_1564del	NP_001341709.1:n.1561_1564del
NM_001354781.1:c.1725_1728del	NP_001341710.1:n.1725_1728del
NM_001354782.1:c.1725_1728del	NP_001341711.1:n.1725_1728del
NM_001354783.1:c.1725_1728del	NP_001341712.1:n.1725_1728del
NM_001354784.1:c.1725_1728del	NP_001341713.1:n.1725_1728del
NM_004346.4:c.1561_1564del MANE Select	NP_004337.2:n.1561_1564del
NM_001354777.2:c.1561_1564del	NP_001341706.1:n.1561_1564del
NM_001354779.2:c.1561_1564del	NP_001341708.1:n.1561_1564del
NM_001354780.2:c.1561_1564del	NP_001341709.1:n.1561_1564del
NM_001354781.2:c.1725_1728del	NP_001341710.1:n.1725_1728del
NM_001354782.2:c.1725_1728del	NP_001341711.1:n.1725_1728del
NM_001354783.2:c.1725_1728del	NP_001341712.1:n.1725_1728del
NM_001354784.2:c.1725_1728del	NP_001341713.1:n.1725_1728del
NM_032991.3:c.1561_1564del	NP_116786.1:n.1561_1564del